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Association of PBRM1 rs2251219 with major depressive disorder and biochemical variables in a Taiwanese cohort

Kuan-Ju Chou1, Chuan-Hsun Yu1, Yu-Ting Yan2

  • 1Department of General Psychiatry, Yu Li Hospital, Ministry of Health and Welfare, Hualien, Taiwan, ROC.

Journal of the Chinese Medical Association : JCMA
|May 9, 2025
PubMed
Abstract

Insights

The PBRM1 rs2251219 gene variant is linked to an increased risk of major depressive disorder (MDD). This genetic factor also correlates with variations in key blood biochemical levels, impacting psychiatric traits.

Area of Science:

  • Genetics
  • Psychiatry
  • Biochemistry

Background:

  • Major depressive disorder (MDD) is a complex, polygenic condition with over 100 identified genetic loci.
  • Previous research suggested a link between the PBRM1 rs2251219 polymorphism and MDD, but findings were inconclusive.
  • This study aimed to validate the association between PBRM1 rs2251219 and MDD in a large Taiwanese population.

Purpose of the Study:

  • To investigate the association between the PBRM1 rs2251219 polymorphism and the risk of major depressive disorder (MDD).
  • To explore the relationship between the PBRM1 rs2251219 polymorphism and various biochemical parameters in a large cohort.

Main Methods:

  • Utilized data from 117,679 individuals (aged 30-90) from the Taiwan Biobank.
  • Diagnoses of MDD were confirmed using self-reported data and national insurance claims.
  • Genotyping was performed using an Axiom Genome-Wide Array, with statistical analysis employing a general linear model adjusted for age and sex.

Main Results:

  • A statistically significant association was found between the PBRM1 rs2251219 polymorphism and MDD risk (genotype p=0.021, allele p=0.025).
  • Carriers of the T allele exhibited a higher risk of MDD compared to C/C genotype carriers.
  • Significant differences in biochemical markers were observed, including lower body mass index, platelet counts, albumin, and fasting glucose, alongside higher red blood cell counts, hematocrit, and uric acid levels in T/T carriers.

Conclusions:

  • The PBRM1 rs2251219 polymorphism is significantly associated with both major depressive disorder risk and variations in biochemical measurements.
  • These findings suggest that PBRM1 rs2251219 influences blood protein levels and psychiatric traits.
  • The study provides further evidence supporting the role of PBRM1 rs2251219 in the complex etiology of MDD.
Keywords:
Association studyBiochemical variablesMajor depressive disorderTaiwan Biobank

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